18 results on '"Wang, Jun-Li"'
Search Results
2. The prevalence, diagnosis and surgical risk factors of spinal tuberculosis in children.
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Wang, Mao‐Shui, Han, Chao, Wang, Jun‐Li, Liu, Feng‐Lin, Wang, Mao-Shui, Wang, Jun-Li, and Liu, Feng-Lin
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SPINAL tuberculosis ,SURGICAL diagnosis ,MEDICAL records ,SPINAL surgery - Abstract
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- 2020
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3. Treatment delay in childhood pleural tuberculosis and associated factors.
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Gong, Huai-Zheng, Han, Chao, Yang, Feng-Lian, Wang, Chun-Fang, Wang, Jun-Li, and Wang, Mao-Shui
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TUBERCULOSIS ,ELECTRONIC health records ,HEART beat ,ERYTHROCYTES ,DEMOGRAPHIC characteristics ,TUBERCULOSIS epidemiology ,TUBERCULOSIS microbiology ,DRUG therapy for tuberculosis ,MULTIVARIATE analysis ,CROSS-sectional method ,MEDICAL care ,PATIENTS ,RETROSPECTIVE studies ,ANTITUBERCULAR agents ,LOGISTIC regression analysis - Abstract
Background: Delay in diagnosis and treatment worsens the disease and clinical outcomes, which further enhances the transmission of tuberculosis (TB) in the community. Therefore, this study aims to assess treatment delay and its associated factors among childhood pleural TB patients in China.Methods: Between January 2006 and December 2019, consecutive patients aged ≤15 years with definite or possible pleural TB were included for analysis. Treatment delay duration was defined as the time interval from the onset of symptoms to treatment initiation and was stratified into two categories: < 30 days, ≥30 days (median delay day is 30 days). The electronic medical records of children were reviewed to obtain demographic characteristics, clinical characteristics, laboratory examinations, and radiographic findings. Univariate and multivariate logistic regressions were used to explore the factors associated with treatment delay in patients.Results: A total of 154 children with pleural TB were included, with a mean age of 12.4 ± 3.3 years. The median treatment delay was 30 days (interquartile range, 10-60 days) and 51.3% (n = 79) of patients underwent a treatment delay. Multivariate analysis revealed that heart rate (≤92 beats/min, age-adjusted OR = 2.503, 95% CI: 1.215, 5.155) and coefficient of variation of red cell distribution width (RDW-CV, ≥12.9%, age-adjusted OR = 4.705, 95% CI: 2.048, 10.811) were significant risk factors for treatment delays in childhood pleural TB.Conclusion: Our findings suggested that a significant treatment delay occurs among children with pleural TB in China. Patients with a low heart rate or a high RDW-CV experienced delays in the initiation of anti-TB therapy. Therefore, well awareness of the associations between clinical characteristics and treatment delay may improve the management of children with pleural TB and enable us to develop preventive strategies to reduce the treatment delay. [ABSTRACT FROM AUTHOR]- Published
- 2020
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4. Epidemiological Trends in the Form of Childhood Tuberculosis in a Referral Tuberculosis Hospital in Shandong, China.
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Wang, Mao-Shui, Wang, Jun-Li, and Liu, Xin-Jie
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TUBERCULOSIS epidemiology , *HOSPITALS , *MEDICAL records , *MEDICAL referrals , *RETROSPECTIVE studies , *ACQUISITION of data methodology , *CHILDREN - Abstract
Background. In China, the prevalence of tuberculosis (TB) diseases and epidemiological trends in the TB forms among children are still unclear; a retrospective study was conducted aiming to assess it. Methods. Between January 2007 and September 2020, 1577 consecutive childhood TB patients (aged ≤ 15 years) were included in the study. Data, including demographic information and underlying diseases, were collected from medical records. Then, patients were categorized and reported according to the anatomical site of TB disease. To analyze the epidemiological trends in the proportion of each form of TB disease, a linear-by-linear association was used, and a P value of <0.05 was considered to indicate that a significant change had occurred in the proportion of TB disease over the studied period. Results. During the fourteen-year study period, a total of 1577 children patients were enrolled, including 954 boys (60.5%) and 623 girls (39.5%), with a mean age of 9.26 ± 5.18 years. Among the studied patients, 810 (51.4%) patients have pulmonary TB, 1137 (72.1%) have extrapulmonary TB, 372 (23.6%) have both conditions, and another 765 (48.5%) extrapulmonary cases presented in isolated form. Pleural TB (29.0%) and tuberculous lymphadenitis (23.7%) were the most frequent two forms of childhood TB. In addition, during the past decade, the proportions of pulmonary TB, pleural TB, and tuberculous lymphadenitis showed an increasing trend (all P < 0.05). However, no significant trends in the proportions of other forms of TB disease, such as extrapulmonary TB (P > 0.05), tuberculous meningitis (P > 0.05), endobronchial TB (P > 0.05), and disseminated TB (P > 0.05), were found. Conclusion. Our findings suggest that childhood TB is facing new challenges, and the policy should be adjusted timely to fit the real situation. [ABSTRACT FROM AUTHOR]
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- 2020
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5. Nutritional complexity in children with ADHD related morbidities in China: A cross-sectional study.
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Li-xiao Shen, Feng Li, Min-bo Xue, Fei Li, Sheng-hui Li, Fan Jiang, Xiao-yang Sheng, Jun-li Wang, Shen, Li-Xiao, Li, Feng, Xue, Min-Bo, Li, Fei, Li, Sheng-Hui, Jiang, Fan, Sheng, Xiao-Yang, and Wang, Jun-Li
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RESEARCH , *PREMATURE infants , *CROSS-sectional method , *RESEARCH methodology , *EVALUATION research , *ATTENTION-deficit hyperactivity disorder , *COMPARATIVE studies , *DISEASE prevalence , *DISEASE complications - Abstract
Background and Objectives: To assess the general and nutritional health of children with attention deficit/ hyperactivity disorder (ADHD).Methods and Study Design: The National Multicenter Sleep Research Database for 23791 school-age children in grades 1-6 from 9 cities in China was accessed. Children with a specialist diagnosis of ADHD or not (non-ADHD) in 2005 were studied. National anthropometric growth standards for children aged 2-18 years classified children as underweight, wasted, stunted (short stature presumed nutritional), or overweight/obesity. Independent variables were preterm birth, sleep quality and prior disease and ADHD was the dependent variable. Binary logistic regression models were developed along with interaction analyses for associated disorder or disease on overweight/obesity, and stunted.Results: Some 18731 records were analyzed for 808 children with ADHD. The comparative prevalences for ADHD with non-ADHD children were stunted 9.8% vs 5.9% (p<0.001) and overweight/ obesity (32.6% vs 29.6%, p=0.002) respectively. ADHD boys were more often underweight (7.5% vs 5.3%, p=0.027), but not in girls. ADHD likelihood Odds Ratios, ORs (with 95%CI) were for premature birth 1.838, (1.393-2.423), allergic diseases 1.915 (1.526-2.399), otitis media 1.54 (1.118- 2.146), tonsillar or adenoid hypertrophy1.662 (1.348-2.050), gastroesophageal reflux 3.008(1.792-1.792-5.049), and sleep disorder 2.201(1.847-2.623) were ADHD risk factors. Only poor sleep quality and ADHD exhibited an interaction for stunted with OR=0.409 (0.233-0.719).Conclusions: Compromised and complex nutritional health in ADHD children challenges clinical nutrition with a range of health problems, albeit coherent with the needed nutritional emphasis in the 'first 1000 days'. [ABSTRACT FROM AUTHOR]- Published
- 2022
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6. Genetic association study of intron variants in the forkhead box protein P3 gene in Chinese patients diagnosed with cervical cancer.
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Shi F, Pang XX, Li GJ, Chen ZH, Dong MY, and Wang JL
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- Case-Control Studies, China, Female, Forkhead Transcription Factors genetics, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Introns genetics, Mutation, Polymorphism, Single Nucleotide genetics, Forkhead Box Protein O3 genetics, Papillomavirus Infections genetics, Uterine Cervical Neoplasms genetics
- Abstract
The aim of this study was to investigate the effects of forkhead box protein P3 (FOXP3) intron single nucleotide variants (SNVs) in high-risk human papilloma virus (HR-HPV) infection and cervical cancer (CC) malignant lesions. We performed FOXP3 genotyping in 350 patients with CC and 350 healthy controls using the ImLDR multiple single nucleotide polymorphism genotyping technology. The heterozygous mutation TC in rs2294021 decreased the risk of HR-HPV infection and CC malignant lesions (TC vs. TT: OR = 0.71, 95% CI = 0.51-0.99); the dominant model TC+CC and allele C in rs2294021 decreased the risk of CC malignant lesions (TC+CC vs. TT: OR = 0.69, 95% CI = 0.50-0.95; C vs. T: OR = 0.78, 95% CI = 0.63-0.97). The heterozygous mutation GA, dominant model GA+AA and allele A in rs3761549 also decreased the risk of HR-HPV infection and CC malignant lesions (GA vs. GG: OR = 0.70, 95% CI = 0.51-0.96; GA+AA vs. GG: OR = 0.69, 95% CI = 0.51-0.94; A vs. G: OR = 0.75, 95% CI = 0.58-0.96). Patients with CC and HR-HPV infection carrying rs2294021 TC and rs3761549 GA had lower expression of FOXP3 protein. Haplotype analysis revealed that T-C-A decreased the risk of HR-HPV infection. Furthermore, we found a significant association between immune cells infiltration and prognosis in patients with CC. Our findings demonstrated that rs2294021 and rs3761549 variants may protect against HR-HPV and CC malignant lesions by downregulating FOXP3 and that FOXP3 was associated with immune cells infiltration, which affected the prognosis of CC., (© 2022 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.)
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- 2022
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7. Human serum albumin variants in China: a molecular epidemiological investigation and literature review.
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Wu JR, Lin M, Lin F, Zhan XF, Wang JL, Yang H, Luo ZY, Ma ZZ, Wang CF, and Yang LY
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- China, Gene Frequency, Genetics, Population, Humans, Molecular Epidemiology, Mutation, Retrospective Studies, Serum Albumin, Human genetics
- Abstract
Background: Bisalbuminemia is a hereditary and/or acquired abnormality characterized by a double albumin (ALB) band on serum protein electrophoresis. However, there have been no epidemiological investigations of ALB variants in Chinese populations., Methods: This retrospective study examined 71,963 unrelated subjects from five provinces in southern China. ALB variants were screened by cellulose acetate electrophoresis at pH 8.6 and ALB mutations were confirmed by polymerase chain reaction-DNA sequencing., Results: The average incidence of inherited bisalbuminemia in the southern Chinese population was 0.0264% (19/71,963). Thirteen cases showed slow and six showed fast genetic variants on cellulose acetate electrophoresis. Four kinds of ALB variants were identified: proalbumin Lille (p.Arg23His), ALB Castel di Sangro (p.Lys560Glu), ALB Fukuoka-1 (p.Asp587Asn), and a novel ALB Wuxi (p.Lys562Glu). The gene frequency of ALB variants in the Wuxi region (0.126%, 13/10,297) was significantly higher than in other regions in southern China, and 90.9% (10/11) of cases of proalbumin Lille were also found in the Wuxi region., Conclusions: This study provides the first report of the detailed prevalence and molecular characterization of ALB variants in southern China. Compared with other areas of China, Wuxi had a different pattern of ALB variants and a high prevalence of proalbumin Lille.
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- 2021
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8. Risk factors for death in tuberculosis patients requiring ICU care.
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Wang JL, Yin QY, Han C, Liu FL, and Wang MS
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- Adult, Aged, China epidemiology, Female, Humans, Male, Middle Aged, Proportional Hazards Models, Retrospective Studies, Risk Factors, Tuberculosis, Pulmonary epidemiology, Intensive Care Units, Tuberculosis, Pulmonary mortality
- Abstract
The prognostic factor for in-hospital mortality in tuberculosis (TB) patients requiring intensive care unit (ICU) care remains unclear. Therefore, a retrospective study was conducted aiming to estimate the in-hospital mortality rate and the risk factors for mortality in a high-burden setting. All patients with culture-confirmed TB that were admitted to the ICU of the hospital between March 2012 and April 2019 were identified retrospectively. Data, such as demographic characteristics, comorbidities, laboratory measures and mortality, were obtained from medical records. The Cox proportional hazards regression model was used to identify prognostic factors that influence in-hospital mortality. A total of 82 ICU patients with confirmed TB were included in the analysis, and 22 deaths were observed during the hospital stay, 21 patients died in the ICU. In the multivariable model adjusted for sex and age, the levels of serum albumin and white blood cell (WBC) count were significantly associated with mortality in TB patients requiring ICU care (all P < 0.01), the hazard ratios were 0.8 (95% confidence interval (CI): 0.7-0.9) per 1 g/l and 1.1 (95% CI: 1.0-1.2) per 1 × 109/l, respectively. In conclusion, in-hospital mortality remains high in TB patients requiring ICU care. Low serum albumin level and high WBC count significantly impact the risk of mortality in these TB patients in China.
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- 2021
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9. Levels and sources of PBDEs and PCBs in human nails from e-waste, urban, and rural areas in South China.
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Meng HJ, Tang B, Zheng J, Ma SX, Cai FS, Zhuang X, Wang JL, and Yu YJ
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- China, Environmental Monitoring, Halogenated Diphenyl Ethers, Humans, Electronic Waste, Nails, Polychlorinated Biphenyls
- Abstract
Human nails have been increasingly used as a biomarker for human exposure to persistent organic pollutants (POPs). In the present study, the fingernails of e-waste-dismantling workers from Longtang town, Qingyuan city, rural residents from Shijiao town, Qingyuan city, and urban residents from Guangzhou city, respectively, were collected from South China to monitor the human burdens of polybrominated diphenyl ether (PBDEs) and polychlorinated biphenyl (PCBs). The median concentrations of in the nails of the e-waste-dismantling workers, and urban and rural residents were 412, 129, and 82.1 ng g
-1 , respectively, and the median concentrations of were 108, 8.4, and 22.1 ng g-1 , respectively. The levels of PCBs and PBDEs in the nails of e-waste-dismantling workers were significantly higher as compared to those for urban and rural residents (p < 0.05), implying the continuous and greater exposure to these chemicals in the e-waste recycling areas. BDE 209 (92-98%) was the major congener of PBDEs and CB 52 (26-51%) was the main congener of PCB in nail samples. However, no significant gender difference was observed for PBDE and PCB levels in nails from all three investigated areas, and no significant correlation was found between their levels and the age of the participants. The enantiomer fractions (EFs) of CBs 95 and 132 indicated that the external sources (e.g. dust and/or air) were the primary sources for CBs 95 and 132 in human nails from the e-waste area, while the contribution from the internal sources (e.g. serum) could be in a small percentage. The results of this study indicate that human nails can be used as a proper indicator of human exposure to PCBs and PBDEs, and further studies are needed by a comprehensive investigation of the relationships between the PCB and PBDE levels in the nails and serum and/or other internal tissues.- Published
- 2020
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10. Comparison of the effects of different growth standards on infants in Urban Shanghai: a cluster-randomized controlled trial.
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Wang JL, Ma JQ, Xu MY, Li F, Ren F, Guo YF, and Sheng XY
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- Body Height physiology, Body Weight physiology, China, Feeding Behavior physiology, Female, Humans, Infant, Infant, Newborn, Male, Overweight physiopathology
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Background: The Shanghai growth standards are higher than World Health Organization (WHO) growth standards, which may influence the feeding practices of the caregivers and increase the risk of overweight in these infants. This study aimed to compare the effects of different growth standards on childhood obesity in Shanghai metropolitan area., Methods: This was a cluster-randomized controlled trial conducted in 2 downtown areas with 19 community health service centers in Shanghai from November 2013 to December 2015. Randomization was done at the level of the community. Infants (health newborns) were assessed and monitored by the Shanghai growth standards (S-group) and the 2006 WHO growth standards (W-group), respectively. Measurements were taken at 1.0, 2.0, 4.0, 6.0, 9.0 and 12.0 months of age during follow-up period. Based on the values of length and weight measurements, according to the group's growth standards, doctors provided the caregivers with corresponding clinical consultation. Changes in weight-for-age z-score (WAZ), length-for-age z-score (LAZ), and weight-for length z-score (WLZ) between 2 groups were assessed using mixed regression models. Overweight was compared between 2 group at all follow-up measurements., Results: A total of 6509 infants (52.1% were boys) were in the W-group, and 8510 infants (51.4% were boys) were in the S-group. The overweight ratios between two groups were distinct at 9 months of age (3.4% in W-group and 4.3% in S-group) and 12 months of age (2.2% in W-group and 3.8% in S-group), and the differences were statistically significant (P = 0.020 and P < 0.001, respectively). Compared to W-group, the increase in WAZ (coefficient = 0.04, P = 0.004) and WLZ (coefficient = 0.09, P < 0.001) were significantly greater, and the LAZ was lower (coefficient = -0.04, P = 0.047) in S-group (W-group values were used as reference in mixed regression models)., Conclusion: Compared to the Shanghai growth standards, the adoption of WHO 2006 growth standards would reduce the risk of infant overweight in Shanghai metropolitan area up to 1 year of age., Trial Registration Number: ChiCTR1800015371, http://www.chictr.org.cn/ Chinese Clinical Trial Registry.
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- 2019
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11. Increasing prevalence of non-tuberculous mycobacterial infection from 2004-2009 to 2012-2017: A laboratory-based surveillance in China.
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Xu D, Han C, Wang MS, and Wang JL
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- China, Diagnostic Tests, Routine, Humans, Prevalence, Mycobacterium Infections, Nontuberculous, Nontuberculous Mycobacteria
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- 2018
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12. Association of the single-nucleotide polymorphism and haplotype of the complement receptor 1 gene with malaria.
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Lan Y, Wei CD, Chen WC, Wang JL, Wang CF, Pan GG, Wei YS, and Nong LG
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- Adult, Alleles, Asian People, Case-Control Studies, China, Erythrocytes parasitology, Female, Genetic Predisposition to Disease, Genotype, Humans, Malaria ethnology, Male, Middle Aged, Receptors, Complement blood, Taq Polymerase, Haplotypes, Malaria genetics, Polymorphism, Single Nucleotide genetics, Promoter Regions, Genetic genetics, Receptors, Complement genetics
- Abstract
Purpose: Although the polymorphisms of erythrocyte complement receptor type 1 (CR1) in patients with malaria have been extensively studied, a question of whether the polymorphisms of CR1 are associated with severe malaria remains controversial. Furthermore, no study has examined the association of CR1 polymorphisms with malaria in Chinese population. Therefore, we investigated the relationship of CR1 gene polymorphism and malaria in Chinese population., Materials and Methods: We analyzed polymorphisms of CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T in 509 patients with malaria and 503 controls, using the Taqman genotyping assay and PCR-direct sequencing., Results: There were no significant differences in the genotype, allele and haplotype frequencies of CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T polymorphisms between patients with malaria and controls. Furthermore, there was no association of polymorphisms in the CR1 gene with the severity of malaria in Chinese population., Conclusion: These findings suggest that CR1 gene rs2274567 G/A, rs4844600 G/A, and rs2296160 C/T polymorphisms may not be involved in susceptibility to malaria in Chinese population.
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- 2015
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13. High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.
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Lin M, Jiao JW, Zhan XH, Zhan XF, Pan MC, Wang JL, Wang CF, Zhong TY, Zhang Q, Yu X, Wu JR, Yang HT, Lin F, Tong X, Yang H, Zha GC, Wang Q, Zheng L, Wen YF, and Yang LY
- Subjects
- China, DNA blood, DNA genetics, Geography, Humans, Reproducibility of Results, beta-Thalassemia blood, Asian People genetics, Genetic Testing, Genotyping Techniques methods, Mutation genetics, Nucleic Acid Denaturation genetics, beta-Thalassemia genetics
- Abstract
β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia. Here, we used an improved HRM method to screen and type 12 common β-thalassemia mutations in Chinese, and the rapidity and reliability of this method was investigated. The whole PCR and HRM procedure could be completed in 40 min. The heterozygous mutations and 4 kinds of homozygous mutations could be readily differentiated from the melting curve except c.-78A>G heterozygote and c.-79A>G heterozygote. The diagnostic reliability of this HRM assay was evaluated on 756 pre-typed genomic DNA samples and 50 cases of blood spots on filter paper, which were collected from seven high prevalent provinces in southern China. If c.-78A>G heterozygote and c.-79A>G heterozygote were classified into the same group (c.-78&79 A>G heterozygote), the HRM method was in complete concordance with the reference method (reverse dot blot/DNA-sequencing). In a conclusion, the HRM method appears to be an accurate and sensitive method for the rapid screening and identification of β-thalassemia mutations. In the future, we suggest this technology to be used in neonatal blood spot screening program. It could enlarge the coverage of β-thalassemia screening program in China. At the same time, its value should be confirmed in prospectively clinical and epidemiological studies.
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- 2014
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14. Association of interleukin-8 gene polymorphisms with the risk of hepatocellular carcinoma.
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Wang JL, Nong LG, Wei YS, Tang YJ, Wang JC, and Wang CF
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- Adult, Aged, Alleles, Carcinoma, Hepatocellular physiopathology, China, Female, Genetic Predisposition to Disease, Haplotypes, Humans, Liver Cirrhosis genetics, Liver Neoplasms physiopathology, Male, Middle Aged, Polymorphism, Single Nucleotide, Carcinoma, Hepatocellular genetics, Genetic Association Studies, Interleukin-8 genetics, Liver Neoplasms genetics
- Abstract
Interleukin-8 (IL8) polymorphisms have been implicated in several cancers, but their roles in the pathogenesis of hepatocellular carcinoma (HCC) are largely unknown. The present study was designed to explore the association between IL8 polymorphism and the risk of HCC in a Chinese population. Four single nucleotide polymorphisms (SNPs) of the IL8 gene -251A/T, +781C/T, -353A/T and +678T/C were analyzed in 205 HCC patients and 208 healthy controls in a Chinese population. Serum levels of IL8 were detected in HCC patients and healthy controls. The association between IL8 polymorphisms and HCC risk was measured using the adjusted odds ratios (OR) and their 95% confidence intervals (CI) from multiple logistic regression analysis. Haplotype analysis and gene-environment interaction analysis was also performed. The serum level of IL8 was significantly higher in HCC patients compared with healthy controls (P < 0.001). After adjusting for confounding factors, no significant associations were found between -251A/T, +781C/T, -353A/T and +678T/C and HCC risk (all P > 0.05). Haplotype analysis showed that A(251)-C(781)-A(353)-C(678) conferred decreased risk of HCC onset (adjusted OR 0.31, 95% CI 0.13-0.77). No significant interaction effects were found between the four SNPs and HBV infection, cirrhosis, gender smoking and alcohol consumption (all P > 0.05). No association between -251A/T, +781C/T, -353A/T and +678T/C of the IL8 gene and the risk of HCC was found in this Chinese population, and the SNPs did not display any interaction with several environmental factors with regard to HCC risk. However, it appears that A(251)-C(781)-A(353)-C(678) is perhaps a protective haplotype for HCC.
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- 2014
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15. Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
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Lin M, Wen YF, Wu JR, Wang Q, Zheng L, Liu GR, Huang Y, Yang H, Lin F, Zhan XF, Lin CP, Yang HT, Weng QQ, Huang FT, Wang Y, Yao MQ, Chen HZ, Wu DH, Zeng JB, Zeng RX, Yang H, Li GC, Lu M, Zhu JJ, Xie LX, Wang JL, and Yang LY
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- China epidemiology, DNA Primers genetics, Gene Frequency, Genetic Carrier Screening, Hemoglobinopathies ethnology, Hemoglobins genetics, Humans, Immunoblotting, Oligonucleotide Array Sequence Analysis, Polymerase Chain Reaction, Prevalence, Risk Assessment, Sequence Analysis, DNA, beta-Thalassemia ethnology, Ethnicity, Hemoglobinopathies epidemiology, Hemoglobinopathies genetics, Hydrops Fetalis epidemiology, beta-Thalassemia epidemiology
- Abstract
Background: Hemoglobinopathies are the most common inherited diseases in southern China. However, there have been only a few epidemiological studies of hemoglobinopathies in Guangdong province., Materials and Methods: Peripheral blood samples were collected from 15299 "healthy" unrelated subjects of dominantly ethnic Hakka in the Meizhou region, on which hemoglobin electrophoresis and routine blood tests were performed. Suspected cases with hemoglobin variants and hereditary persistence of fetal hemoglobin (HPFH) were further characterized by PCR, DNA sequencing, reverse dot blot (RDB) or multiplex ligation-dependent probe amplification (MLPA). In addition, 1743 samples were randomly selected from the 15299 subjects for thalassemia screening, and suspected thalassemia carriers were identified by PCR and RDB., Results: The gene frequency of hemoglobin variants was 0.477% (73/15299). The five main subgroups of the ten hemoglobin variants were Hb E, Hb G-Chinese, Hb Q-Tahiland, Hb New York and Hb J-Bangkok. 277 cases (15.89%, 277/1743) of suspected thalassemia carriers with microcytosis (MCV<82 fl) were found by thalassemia screening, and were tested by a RDB gene chip to reveal a total of 196 mutant chromosomes: including 124 α-thalassemia mutant chromosomes and 72 β-thalassemia mutant chromosomes. These results give a heterozygote frequency of 11.24% for common α and β thalassemia in the Hakka population in the Meizhou region. 3 cases of HPFH/δβ-thalassemia were found, including 2 cases of Vietnamese HPFH (FPFH-7) and a rare Belgian( G)γ((A)γδβ)⁰-thalassemia identified in Chinese., Conclusions: Our results provide a detailed prevalence and molecular characterization of hemoglobinopathies in Hakka people of the Meizhou region. The estimated numbers of pregnancies each year in the Meizhou region, in which the fetus would be at risk for β thalassemia major or intermedia, Bart's hydrops fetalis, and Hb H disease, are 25 (95% CI, 15 to 38), 40 (95% CI, 26 to 57), and 15 (95% CI, 8 to 23), respectively.
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- 2013
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16. Development and evaluation of a reverse dot blot assay for the simultaneous detection of common alpha and beta thalassemia in Chinese.
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Lin M, Zhu JJ, Wang Q, Xie LX, Lu M, Wang JL, Wang CF, Zhong TY, Zheng L, Pan MC, Wu JR, Wen YF, Liu GR, Zhan XF, Lin F, and Yang LY
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- Asian People genetics, Base Sequence, China, Humans, Multiplex Polymerase Chain Reaction methods, Mutation, Reproducibility of Results, Sensitivity and Specificity, alpha-Globins genetics, alpha-Thalassemia genetics, beta-Globins genetics, beta-Thalassemia genetics, Oligonucleotide Array Sequence Analysis methods, alpha-Thalassemia diagnosis, beta-Thalassemia diagnosis
- Abstract
Thalassemia is the commonest inherited autosomal recessive disorders of hemoglobin in southern China. We developed and evaluated a reverse dot blot (RDB) assay combined with flow-through hybridization technology platform for the rapid and simultaneous identification of 5 types of α-thalassemia and 16 types of β-thalassemia common in Chinese. Reliable genotyping of wild-type and thalassemic genomic DNA samples was achieved by means of a gene chip on which allele-specific oligonucleotide probes were immobilized on a nylon membrane. This method involved two multiplex PCR amplification systems of α-thalassemia and β-thalassemia and one time of hybridization. The whole procedure starting from blood sampling to the identification of thalassemia genotype required less than 4h. The diagnostic reliability of this reverse dot blot assay was evaluated on 427 samples (387 cases of thalassemia and 40 healthy persons) by using direct DNA sequence analysis and gap-PCR in a blind study. These samples included 377 cases of blood, 7 cases of amniotic fluid, 18 cases of chorionic villus, and 25 cases of cord blood. The RDB gene chip was in complete concordance with the reference method. The reverse dot blot assay was a simple, rapid, accurate, and cost-effective method to identify common thalassemia genotypes in the Chinese population., (Copyright © 2011 Elsevier Inc. All rights reserved.)
- Published
- 2012
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17. Association of single nucleotide polymorphisms in IL-12 and IL-27 genes with colorectal cancer risk.
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Huang ZQ, Wang JL, Pan GG, and Wei YS
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- Aged, Case-Control Studies, China, Female, Genetic Predisposition to Disease, Genome, Human, Haplotypes, Humans, Interleukin-12 genetics, Interleukin-17 genetics, Male, Middle Aged, Polymorphism, Restriction Fragment Length, Colorectal Neoplasms diagnosis, Colorectal Neoplasms genetics, Polymorphism, Single Nucleotide
- Abstract
Objectives: Interleukin-12 (IL-12) plays an important role in antitumor immunity. Interleukin-27 (IL-27) is a novel IL-12 family member. The present studies demonstrate that IL-27 mediates potent antitumor activity. However, No studies have examined the association of these polymorphism with colorectal cancer (CRC). Therefore, we investigated the relationship of IL-12 and IL-27 gene polymorphisms and CRC., Design and Methods: We analyzed polymorphisms of IL-12 gene 16974 A/C and IL-27 gene -964 A/G, 2905 T/G, 4730 T/C in 410 patients with CRC and 450 controls, using PCR-RFLP method., Results: There were no significant differences in the genotype and allele frequencies of IL-12 and IL-27 gene polymorphisms between the group of patients with CRC and the controls. Furthermore, no association was found between IL-12 family gene polymorphisms and different clinical stages in patients with CRC., Conclusion: These findings suggest that IL-12 and IL-27 gene polymorphisms may not be involved in susceptibility to CRC., (Copyright © 2011. Published by Elsevier Inc.)
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- 2012
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18. [Risk factors of obstructive sleep apnea hypopnea syndrome and its treatment in female patients].
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Wang JL, Xia J, Wang JF, Luo C, and Liang ZA
- Subjects
- Adult, Age Factors, China epidemiology, Female, Humans, Middle Aged, Quality of Life, Risk Factors, Sleep Apnea Syndromes epidemiology, Sleep Apnea Syndromes therapy, Surveys and Questionnaires, Hypertension complications, Obesity complications, Sleep Apnea Syndromes etiology
- Abstract
Objective: To identify risk factors of obstructive sleep apnea hypopnea syndrome (OSAHS) in female patients, and assess its treatment and health-related quality of life (HRQoL) of the patients., Methods: One hundred and ninety three female patients undergoing polysomnography whith sleep breath disorders were recruited and divided into non-OSAHS group and OSAHS group. Age, body mass index (BMI), and prevalence of menopause and hypertension were compared between the two groups. The associations of those variables with apnea hypopnea index (AHI) and lowest pulse oxygen saturation (LSpO2) were analysed. The treatment of OSAHS and its impact on HRQoL assessed by the Calgary quality of life index (SAQLI) were evaluated., Results: The OSAHS group had greater mean age, BMI, and prevalence of menopause and hypertension than the non-OSAHS group (P<0.05). Those variables were significantly correlated with AHI and LSpO2 (P<0.05). Weight control and positional therapy were the most common treatment for sleep breath disorders. Weight loss and continuous positive airway pressure improved the Epworth sleep scale (ESS) of the patients with OSAHS significantly (P<0.05). But positional therapy made no difference (P>0.05). The ESS of the 32.5% of patients who did not undergo any treatment was worsened during the same period of time (P<0.05). No differences were found in the scores of the four domains of SAQLI between the two groups (P>0.05). The stepwise multiple regression analysis identified Pittsburgh sleep quality index (PSQI), ESS and AHI as independent predictors for the total score of SAQLI (P<0.05)., Conclusion: Older age, greater BMI, menopause and hypertension are risk factors of OSAHS in female patients. OSAHS was not well managed in female patients. PSQI, ESS and AHI can be used as predictors for HRQoL.
- Published
- 2011
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